Disparities and genetic risk factors in obstructive sleep apnea

doi:10.1016/j.sleep.2015.01.015

Sleep Medicine

Volume 18, February 2016, Pages 96-102

https://doi.org/10.1016/j.sleep.2015.01.015 Get rights and content

Highlights

•
The prevalence of obstructive sleep apnea (OSA) is higher among African Americans, Native Americans, and Hispanics.
•
Obesity, craniofacial structure, and genetics contribute to prevalence differences.
•
Presenting symptoms and consequences of OSA vary by racial background.
•
OSA treatment outcomes vary by race, being worst among African Americans.

Abstract

Obstructive sleep apnea (OSA) is an increasingly prevalent condition. A growing body of literature supports substantial racial disparities in the prevalence, risk factors, presentation, diagnosis, and treatment of this disease. Craniofacial structure among Asians appears to confer an elevated risk of OSA despite lower rates of obesity. Among African Americans, Native Americans, and Hispanics, OSA prevalence is increased, likely due in part to obesity. The burden of symptoms, particularly excessive daytime sleepiness, is higher among African Americans, although Hispanics more often report snoring. Limited data suggest that African Americans may be more susceptible to hypertension in the setting of OSA. While differences in genetic risk factors may explain disparities in OSA burden, no definitive genetic differences have yet been identified. In addition to disparities in OSA development, disparities in OSA diagnosis and treatment have also been identified. Increased severity of disease at diagnosis among African Americans suggests a delay in diagnosis. Treatment outcomes are also suboptimal among African Americans. In children, tonsillectomy is less likely to cure OSA and more commonly associated with complications in this group. Among adults, adherence to continuous positive airway pressure (CPAP) is substantially lower in African Americans. The reasons for these disparities, particularly in outcomes, are not well understood and should be a research priority.

Section snippets

Background

Obstructive sleep apnea (OSA) is one of the most prevalent sleep disorders with moderate to severe disease affecting up to 17% of middle-aged men and 9% of middle-aged women [1]. OSA is associated with numerous adverse consequences including excessive daytime sleepiness, motor vehicle accidents, hypertension, and cardiovascular disease (CVD) [2]. A large body of literature has identified risk factors for OSA, consequences of the disease, and treatment options. However, studies evaluating the

Disparities in OSA prevalence

Few studies have directly compared the prevalence of OSA across racial groups. In addition, the lack of consistent criteria to define OSA limits comparisons of OSA prevalence across studies. Nevertheless, available data indicate an elevated prevalence of OSA among African Americans, Hispanics, and Native Americans as compared to US whites, while the prevalence of OSA in Asians appears comparable to whites.

The strongest evidence for a racial disparity in OSA exists with regard to African

OSA risk factors

Understanding the basis of disparities in OSA prevalence requires an evaluation of disparities in the risk factors for OSA as well as an assessment of racial heterogeneity in how risk factors contribute to OSA pathogenesis. Craniofacial shape and obesity are among the most studied OSA risk factors.

OSA symptoms and consequences

While a number of studies have established the disparities that exist in OSA prevalence across racial groups, fewer studies have examined differences in the consequences of OSA including how presentation of the disease may vary by race. However, given the cultural differences that exist regarding sleep, it is no surprise that reports of common OSA-related symptoms might vary. With regard to CVD, the substantial disparity in CVD borne by certain racial groups, particularly African Americans, has

Conclusion

OSA is a common disease across races. However, research has demonstrated racial differences in OSA prevalence. Risk factors, including craniofacial structure and obesity, may explain some of the differences in prevalence, particularly among Asians and African Americans. Report of symptoms, including sleepiness and snoring, also clearly varies by race. This may reflect cultural differences in tolerance and report of symptoms. Finally, diagnosis and treatment disparities are known to exist,

Conflict of interest

The authors have no conflicts of interest to report.

The ICMJE Uniform Disclosure Form for Potential Conflicts of Interest associated with this article can be viewed by clicking on the following link: http://dx.doi.org/10.1016/j.sleep.2015.01.015.

. ICMJE Form for Disclosure of Potential Conflicts of Interest form.

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Limited attention has been given to exploring the efficacy of titration in split-night polysomnography (PSG) and the factors influencing adherence to continuous positive airway pressure (CPAP) therapy. This study aims to evaluate the severity of OSA and PSG parameters in HP compared to WP.
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The study enrolled 50 WP (15 women, 35 men, mean age 60.5 ± 13.60 years, mean BMI 34.2 ± 7.48) and 45 HP (24 women, 21 men, mean age 54.9 ± 13.06 years, mean BMI 37.3 ± 7.88). HP exhibited a mean apnea-hypopnea index (AHI) of 51.1 ± 33.67, saturation nadir of 77.8 ± 10.19, and time spent with saturation <90% of 21.0 ± 26.93 min. In WP, the mean AHI was 39.2 ± 24.49, saturation nadir 81.6 ± 9.04, and time spent <90% was 10.4 ± 17.17 min. All observed differences were statistically significant (p < 0.05). Auto CPAP was prescribed to all patients, with adherence at 3–4 months being 75% ± 30 for HP, with a usage of 5.5 ± 2.2 h, and a residual AHI of 3 ± 3.5. In WP, adherence was 79% ± 30, usage was 5.9 ± 2.1 h, and residual AHI was 3.6 ± 6.2. None of these differences reached statistical significance. Among HP, 37% missed follow-up appointments compared to 12% of WP. More HP used full-face masks, while more WP preferred nasal masks.
HP exhibited significantly worse OSA parameters during the diagnostic phase of PSG compared to WP. HP had a significantly higher no-show percentage than WP. CPAP adherence and residual AHI were not statistically different, but more HP missed follow-up appointments than WP.
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Evidence indicates continuous positive airway pressure (CPAP) therapy improves several important patient-centered outcomes. However, adherence to this safe and effective intervention remains poor.
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This two-group feasibility randomized controlled trial included 29 patients newly diagnosed with OSA and prescribed CPAP therapy. The study was conducted from July 2020 through December 2021 at a midwestern sleep/pulmonary clinic. Participants were randomized to the MENDS intervention group (n=14) (30-45 minute interactive tele-discussions on weeks 2, 4, 6, and 8) or to the usual care (n=15) group. Feasibility, patient-reported outcomes, and behavioral constructs were measured at baseline and 12 weeks. CPAP adherence was measured weekly.
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In 19,017 participants stratified by race, White participants with history of OSA were 1.62 times more likely to have incident cognitive impairment compared to White participants without history of OSA after adjusting for demographic characteristics, history, and lifestyle factors (OR = 1.62, 95% CI = 1.05–2.50, p-value = 0.03). This relationship was not seen in Black participants (OR = 0.92, 95% CI = 0.60–1.43, p-value = 0.72).
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The genetic predisposition for obstructive sleep apnea (OSA) is complex and influenced by multiple genes that likely interact with environmental factors. Our understanding of the genetic contributions of OSA, especially pediatric OSA, is far less understood than many other common, chronic conditions. However, elucidating these genetic factors important for both the development and progression of OSA will be important for our future diagnostic and treatment approaches. This chapter reviews our current knowledge of the genetic risks associated with OSA, methods to explore genetic factors in children, and genetic determinants of pediatric OSA. This knowledge could contribute to the development of future studies aimed at investigating ways to reduce lifelong burdens and decrease morbidity commonly seen in children with this disease.

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Review ArticleDisparities and genetic risk factors in obstructive sleep apnea

Highlights

Abstract

Section snippets

Background

Disparities in OSA prevalence

OSA risk factors

OSA symptoms and consequences

Conclusion

Conflict of interest

Lancet

J Pediatr

Chest

Respir Med

Otolaryngol Head Neck Surg

Am J Clin Nutr

Am J Med

Chest

Am J Clin Nutr

Am J Clin Nutr

J Pediatr

Am J Hum Genet

Genome Med

Chest

Sleep Med

Chest

J Natl Med Assoc

Otolaryngol Head Neck Surg

Int J Pediatr Otorhinolaryngol

Increased prevalence of sleep-disordered breathing in adults

Am J Epidemiol

Sleep disorders in African Americans and Caucasian Americans: a meta-analysis

Behav Sleep Med

Predictors of obstructive sleep apnea severity in adenotonsillectomy candidates

Sleep

Sleep-disordered breathing in a predominantly African-American pediatric population

J Sleep Res

Risk factors for sleep-disordered breathing in children. Associations with obesity, race, and respiratory problems

Am J Respir Crit Care Med

Racial differences in sleep-disordered breathing in African-Americans and Caucasians

Am J Respir Crit Care Med

Association of sleep-disordered breathing, sleep apnea, and hypertension in a large community-based study. Sleep Heart Health Study

JAMA

Predictors of sleep-disordered breathing in community-dwelling adults: the Sleep Heart Health Study

Arch Intern Med

Prevalence of sleep-disordered breathing in ages 40–64 years: a population-based survey

Sleep

Severity of obstructive sleep apnea between black and white patients

Hosp Pract (1995)

Sleep-disordered breathing in African-American elderly

Am J Respir Crit Care Med

Sleep-disordered breathing in Hispanic/Latino individuals of diverse backgrounds. The Hispanic Community Health Study/Study of Latinos

Am J Respir Crit Care Med

Cross-cultural comparison of the sleep-disordered breathing prevalence among Americans and Japanese

Eur Respir J

Racial/ethnic differences in sleep disordered breathing in normal weight, overweight, and obese adults: the Multi-Ethnic Study of Atherosclerosis

Sleep

A comparison of Asian and white patients with obstructive sleep apnea syndrome

Laryngoscope

Prevalence and correlates of sleep-disordered breathing in older men: osteoporotic fractures in men sleep study

J Am Geriatr Soc

Prevalence of sleep-disordered breathing in middle-aged Korean men and women

Am J Respir Crit Care Med

Prevalence of sleep-disordered breathing and sleep apnea in middle-aged urban Indian men

Am J Respir Crit Care Med

Identification of upper airway anatomic risk factors for obstructive sleep apnea with volumetric magnetic resonance imaging

Am J Respir Crit Care Med

Obesity and craniofacial structure as risk factors for obstructive sleep apnoea: impact of ethnicity

Respirology

Upper airway and soft tissue anatomy in normal subjects and patients with sleep-disordered breathing. Significance of the lateral pharyngeal walls

Am J Respir Crit Care Med

The relationship between craniofacial morphology and obstructive sleep apnea in whites and in African-Americans

Am J Respir Crit Care Med

Differences in craniofacial structures and obesity in Caucasian and Chinese patients with obstructive sleep apnea

Sleep

Craniofacial abnormalities in Japanese patients with severe obstructive sleep apnoea syndrome

Respirology

Cephalometric abnormalities in non-obese and obese patients with obstructive sleep apnoea

Eur Respir J

Cephalometric comparisons between Chinese and Caucasian patients with obstructive sleep apnea

Review Article
Disparities and genetic risk factors in obstructive sleep apnea